DYSF and SNAPIN

Number of citations of the paper that reports this interaction (PubMedID 23414517)
48

Data Source:
BioGRID (affinity chromatography technology, two hybrid, imaging technique)

		DYSF	SNAPIN
Description		dysferlin	SNAP associated protein
Image			No pdb structure
GO Annotations	Cellular Component	Endosome Early Endosome Late Endosome Plasma Membrane Endomembrane System Membrane Endocytic Vesicle T-tubule Cytoplasmic Vesicle Membrane Synaptic Vesicle Membrane Cytoplasmic Vesicle Late Endosome Membrane Centriolar Satellite Sarcolemma Extracellular Exosome	Golgi Membrane Acrosomal Vesicle Manchette Cytoplasm Lysosome Lysosomal Membrane Golgi Apparatus Cytosol Synaptic Vesicle Membrane Secretory Granule Synaptic Vesicle Membrane BLOC-1 Complex Cytoplasmic Vesicle Synapse Perinuclear Region Of Cytoplasm Cytoplasmic Side Of Lysosomal Membrane BORC Complex Axon Cytoplasm Microvesicle
	Molecular Function	Calcium Ion Binding Protein Binding Phospholipid Binding Calcium-dependent Phospholipid Binding Lipid Binding Metal Ion Binding	SNARE Binding Protein Binding
	Biological Process	Monocyte Activation Involved In Immune Response Macrophage Activation Involved In Immune Response Regulation Of Neurotransmitter Secretion Negative Regulation Of Phagocytosis	Intracellular Protein Transport Exocytosis Lysosome Organization Lysosomal Lumen Acidification Chemical Synaptic Transmission Neurotransmitter Secretion Anterograde Axonal Transport Retrograde Axonal Transport Endosome To Lysosome Transport Negative Regulation Of Neuron Projection Development Synaptic Vesicle Exocytosis Synaptic Vesicle Maturation Neuron Projection Development Protein-containing Complex Localization Synaptic Vesicle Fusion To Presynaptic Active Zone Membrane Lysosome Localization Melanosome Organization Synaptic Vesicle Transport Anterograde Synaptic Vesicle Transport Regulation Of Endosome Size Protein Maturation Establishment Of Vesicle Localization Regulation Of Lysosome Size Neuron Cellular Homeostasis Organelle Transport Along Microtubule Terminal Button Organization Autophagosome Maturation Late Endosome To Lysosome Transport Positive Regulation Of Late Endosome To Lysosome Transport Regulation Of Synaptic Vesicle Exocytosis
Pathways		Smooth Muscle Contraction Smooth Muscle Contraction	Golgi Associated Vesicle Biogenesis
Drugs
Diseases		Dysferlinopathies, including: Miyoshi myopathy (MM); Limb-girdle muscular dystrophy (LGMD) 2B; Distal myopathy with anterior tibial onset (DMAT) Limb-girdle muscular dystrophy (LGMD) Distal muscular dystrophies, including: Welander distal myopathy (WDM); Tibial muscular dystrophy (TMD); Nonaka distal myopathy with rimmed vacuoles (DMRV); Miyoshi myopathy (MM); Laing myopathy (MPD1); Distal nebulin myopathy (DNM); Distal desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Distal myotilinopathy (MFM3); Distal zaspopathy (MFM4); Distal myopathy 3 (MPD2, VCPDM)
GWAS		Appendicular lean mass ( 33097823) Asthma ( 32296059) Extremely high intelligence ( 29520040) General cognitive ability ( 29844566) Hip circumference adjusted for BMI ( 28552196 34021172) Nonalcoholic steatohepatitis-derived hepatocellular carcinoma ( 29385134) PR interval in Tripanosoma cruzi seropositivity ( 24324551) Protein quantitative trait loci ( 18464913) Urate levels in overweight individuals ( 25811787)
Interacting Genes		40 interacting genes: AKAP1 ANKRD1 ANXA1 ANXA2 APPL1 CAPN3 CAV3 CMYA5 COL12A1 COL6A3 DGKD DHX15 DNAJB6 EEF1A1 EEF1G FAM120A GNL3 KARS1 KIF1B MORF4L1 MYBPC1 MYBPC2 MYH3 MYOM1 MYOM2 NPHP3 OPTN OS9 PHF1 PLP1 RNF10 RNF2 SAMHD1 SGCG SLC12A6 SNAPIN TAF1 XIRP2 XRCC6 ZNF23	103 interacting genes: ABI2 ACTN2 ATG14 ATP1A1 BANP BFSP1 BFSP2 BIN1 BLOC1S1 BLOC1S2 BLOC1S4 BLOC1S5 BLOC1S6 BNIPL C20orf202 CCDC102B CDC42BPA CEP170 CMYA5 CSNK1D DDR1 DENND1C DES DNM2 DOCK9 DST DTNBP1 DYRK3 DYSF EBAG9 EEF1G ELP1 ENO3 EXOC7 FAM114A1 FSD2 GPRASP1 GRIK1 HAP1 HMGB2 IKBIP IMMT KANK2 KAT5 KAT7 KIF5C KPNB1 KRT10 KRT15 KRT16 KRT17 KRT19 KRT20 KRT24 KRT26 LAMA2 LAMC1 LMNB1 LRP12 MACF1 MAPK14 MET MORC3 MTNR1A MYH14 MYH3 MYH7 NECAB2 NEDD9 NME7 NUP62CL PCYT1A PLAC9 PLEC PRKACA RABEP1 RABGEF1 RETREG1 RGS7 RNF13 SHBG SKA1 SMAD2 SMG1 SNAP23 SNAP25 SPAG5 SPP1 SPTB SPTBN1 ST7 TFIP11 TOMM70 TPM1 TPM2 TPM3 TPM4 TRIM63 TRPV1 TSG101 WASHC3 YWHAE YWHAZ
Entrez ID		8291	23557
HPRD ID		04307	06111
Ensembl ID		ENSG00000135636	ENSG00000143553
Uniprot IDs		O75923	O95295
PDB IDs		4CAH 4CAI 4IHB 4IQH 7JOF 7K6B 7KRB 9B8K 9B8L
Enriched GO Terms of Interacting Partners?		Sarcomere Organization Myosin Filament M Band Actin Cytoskeleton Organization Actomyosin Structure Organization Muscle Organ Development Actin Filament-based Process Muscle Structure Development Structural Constituent Of Muscle Cellular Response To Salt Stress Titin Binding Myofibril Sarcolemma Cytoskeleton Organization Response To Salt Stress Extraocular Skeletal Muscle Development Organelle Organization Positive Regulation Of Transport Vesicle Membrane Kinase Binding Phospholipase A2 Inhibitor Activity Phospholipase Inhibitor Activity Cellular Response To Osmotic Stress Z Disc Phosphatidylserine Binding Membrane Raft Assembly Cytoplasmic Side Of Lysosomal Membrane Positive Regulation Of Endocytosis Response To Osmotic Stress Anterograde Synaptic Vesicle Transport Cadherin Binding Involved In Cell-cell Adhesion Translation Elongation Factor Activity Positive Regulation Of Vesicle Fusion Skeletal Muscle Organ Development Regulation Of Protein Localization Retrograde Axonal Transport	Cytoskeleton Organization Cytoskeleton Intermediate Filament Cytoskeleton Organization Intermediate Filament-based Process Organelle Organization Intermediate Filament Organization Establishment Of Organelle Localization Intermediate Filament Supramolecular Fiber Organization Organelle Localization Structural Constituent Of Cytoskeleton BLOC-1 Complex Actin Filament Binding Synaptic Vesicle Transport Establishment Of Vesicle Localization Structural Molecule Activity Axo-dendritic Transport Axon Cytoplasm Axonal Transport Vesicle Localization Establishment Of Localization In Cell Anterograde Axonal Transport Cytosol Anterograde Synaptic Vesicle Transport Muscle Thin Filament Tropomyosin Structural Constituent Of Skin Epidermis Cytoplasm Transport Along Microtubule Vesicle Transport Along Microtubule Cellular Localization Cytoskeleton-dependent Intracellular Transport Vesicle Cytoskeletal Trafficking Regulation Of Cellular Component Organization Microtubule-based Transport Melanosome Organization Keratin Filament Intracellular Transport Pigment Granule Organization Structural Constituent Of Muscle Actomyosin Structure Organization Muscle System Process Actin Binding Muscle Contraction Extracellular Exosome Contractile Muscle Fiber Stress Fiber Organelle Transport Along Microtubule Tissue Morphogenesis Intracellular Protein Localization Z Disc
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